D. Fontán

X-linked myopathy with excessive autophagy: a clinicopathological study of five new families

D. Figarella-Branger, J. Pouget, A. Beaufrère, 2001, Neuromuscular Disorders.

MERRF family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies

M. Malgat, J. Mazat, A. Vital, 1993, Neuromuscular Disorders.

Congenital muscular dystrophy and cerebral CT scan anomalies Results of a collaborative study of the Société de Neurologie Infantile

J. R. Moore, B. Echenne, O. Dulac, 1986, Journal of the Neurological Sciences.

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

M. Lathrop, J. Melki, J. Aicardi, 1990, Nature.

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension

D. Valverde, A. Baloira, Guillermo Pousada, 2016, BMC Genetics.

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension

D. Valverde, A. Baloira, Guillermo Pousada, 2016, BMC Genetics.